Linked Data
ClinVar Variation Id:
982
ClinVar RCV Id:
RCV000001033
dbSNP Id:
rs118204452
ExAC:
2:220022217 A / G
gnomAD v2:
2-220022217-A-G
gnomAD v4:
2-219157495-A-G
PubMed:
PMID:16439204
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219157495A>G , CM000664.2:g.219157495A>G | GRCh38 |
| NC_000002.11:g.220022217A>G , CM000664.1:g.220022217A>G | GRCh37 |
| NC_000002.10:g.219730461A>G | NCBI36 |
| NG_007880.1:g.8371T>C , LRG_90:g.8371T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000426304.6:c.367T>C | ENSP00000394896.2:p.Cys123Arg | |
| ENST00000457600.3:c.367T>C | ENSP00000407201.2:p.Cys123Arg | |
| ENST00000698174.1:c.367T>C | ENSP00000513594.1:p.Cys123Arg | |
| ENST00000698175.1:c.*114T>C | ENSP00000513595.1:n.*114T>C | |
| ENST00000698176.1:n.439T>C | ||
| ENST00000698202.1:c.367T>C | ENSP00000513605.1:p.Cys123Arg | |
| ENST00000698203.1:c.367T>C | ENSP00000513606.1:p.Cys123Arg | |
| ENST00000356853.10:c.367T>C MANE Select | ENSP00000349313.5:p.Cys123Arg | |
| ENST00000318673.6:c.*1489T>C | ENSP00000320919.3:n.*1489T>C | |
| ENST00000356853.9:c.367T>C | ENSP00000349313.5:p.Cys123Arg | |
| ENST00000409720.5:c.367T>C | ENSP00000387290.1:p.Cys123Arg | |
| ENST00000418099.5:c.367T>C | ENSP00000408966.1:p.Cys123Arg | |
| ENST00000426304.5:c.127T>C | ENSP00000394896.1:p.Cys43Arg | |
| ENST00000450447.1:c.*54T>C | ENSP00000408421.1:n.*54T>C | |
| ENST00000457600.2:c.367T>C | ENSP00000407201.1:p.Cys123Arg | |
| ENST00000498327.5:n.2555T>C | ||
| NM_024782.2:c.367T>C , LRG_90t1:c.367T>C | NP_079058.1:p.Cys123Arg | |
| NM_001377498.1:c.367T>C | NP_001364427.1:p.Cys123Arg | |
| NM_001377499.1:c.367T>C | NP_001364428.1:p.Cys123Arg | |
| NM_024782.3:c.367T>C MANE Select | NP_079058.1:p.Cys123Arg | |
| NR_165304.1:n.463T>C |